“Smart pills” for Down syndrome, how realistic are they?

Families living with children who have Down syndrome have waited years for the kind of news released Tuesday: That a human trial with placebo controls showed existing drugs can improve thinking in patients with Down. (Update note: I freely admit to learning as I go about the desire for “people first” language, and what that truly means. I try to alter any insensitive phrases as people alert me to them. Thanks for the advice.)

The research released Tuesday by CU’s Dr. Alberto Costa showed that the approved Alzheimer’s drug memantine show promise in improving the memory of adolescents and young adults with Down syndrome. Test subjects were able to improve “episodic memory”, such as memorizing lists of vocabulary words, better than those who took a placebo, the research showed. Two other areas of thinking did not show significant improvement with the drug.

Whitten, who is the mother of a child with Down syndrome, noted it’s other Alzheimer’s research that has provided some of the mixed messages for families. Medical improvements mean Down syndrome children now have much longer life expectancies than they used to given the complications of the condition. But they are also far more susceptible to Alzheimer’s, at an early age, than the rest of the population. That means as the Down population ages, more and more will be dealing with Alzheimer’s on top of earlier challenges, and their aging parents may no longer be around to help.

From that perspective, it’s great that an Alzheimer’s drug may be useful to Down syndrome sufferers in other ways, said Whitten, who is director of the Global Down Syndrome Foundation. The foundation and her family have helped fund some of Costa’s work, and heartily support him.

But there are also many families who love their kids just the way they are, and are not looking for an “improved” child.

Because the range of effects of Down syndrome are so broad, from low IQ to a normal range, Whitten said Tuesday, “families will react very differently. Some people are laser-focused on cognition and really wanting all research to help on cognition outcomes. Others are all about, ‘Just help me get some good education in a school’,” she said.

“Where we have common ground,” Whitten said of other families, “Is if the medical health outcome for my child will improve, I will embrace that research. So any drug that could stave off early Alzheimer’s, or improve cognition without changing your child, that would be good for health.”

The Post’s Tegan Hanlon had more conversations with researchers about Costa’s work, and added more perspective on its importance:

Dr. Mike Rafii, director of the University of California, San Diego Memory Disorders Clinic, is also working on a clinical trial to improve memory functions in people with Down syndrome.

F. Hoffmann-La Roche LTD, a Switzerland-based healthcare company, manufactured the new drug, RG1662, currently in phase one of testing at nine national testing centers.

RG1662 targets a different neurotransmitter system, the GABA system, than Memantine which works on the glutamate system.

“There are so many different neurotransmitters,” Rafii said. “By trying to optimize their levels we may be able to improve memory functions.”

It’s not until phase 3 of testing, which typically spans from 18 months to two years, when Rafii said experimenters will use a placebo.

Rafii said despite the modest size of Costa’s study, the use of a placebo “gives it its strength.”

“I think it should be considered a good study,” Rafii said. “But a larger study is needed, and a longer study is needed.”

Also tempering enthusiasm these days among families with children facing Down syndrome is the ongoing debate about preventing a problem vs. treating it. With a genetic condition like Down, “prevention” at this point means abortion. Older mothers have long had amniocentesis tests relatively late in pregnancy to tell them about any abnormalities. In the last year, a private company released a test that can detect Down syndrome within the first 10 weeks of pregnancy, making it even more likely those families would choose to end the pregnancy.

The tests have sold even more quickly than the company predicted. People conducting research on Down syndrome can’t help but feel they are losing the attention battle — if the funding world believes Down syndrome will eventually “go away” because fewer and fewer children will be born with it, they won’t want to fund long-term research on how to improve the lives of those who are born with it. Like Costa’s research, in other words. And Costa has a personal stake in all this, too, with his own daughter having Down syndrome.

The numbers already are stark. Various statistical reports put the rate of ended pregnancies, once women find out the fetus has tested positive, at between 87 and 95 percent. Those rates will only go higher as the early test becomes more popular.

Down Syndrome is not an adjective, it is a noun. Therefore, one HAS Down Syndrome. Not IS Down Syndrome. Saying “Families with Down Syndrome children” is like saying “Familes with Cancer boy”. Its rude. Sheesh.

I love my 11 year old Down Syndrome girl just the way she is. Actually, in many ways she is miles ahead of ‘normal’ people regarding perspective on life, happiness, forgiveness, etc. Interesting article though, always a pill out there to fix everything for us.

I had the honor of organizing a conference this January on Poor Prenatal Diagnosis in Washington DC where Dr Costa was a featured speaker. Dr Costa’s primary motivation in doing this research is to improve the life of his daughter Tyche as described in this interview in the NY Times.http://www.nytimes.com/2011/07/31/magazine/a-fathers-search-for-a-drug-for-down-syndrome.html?pagewanted=allHe in no way means to imply that those with T21 are broken or inferior, but like me, he knows that the cruel statistics on abortion of such babies imply a wholesale rejection of our children by society. New prenatal tests will only increase the number of abortions until research gives us a means of making their lives as nearly normal as possible. Dr Jerome Lejeune, the geneticist who discovered Trisomy 21, knew this and before the year 2000, was one of the few researchers who was working on treatments for this condition. His philosophy was similar to Dr Costa’s, “I see only one way left to save them, and that is to cure them. The task is immense, but so is Hope.”

This is one of combination of medicines that help people with Down syndrome think better and have better memory. Roche’s drug is called a reverse GABA agonist or a GABA antagonist which may turn out to be a perfect drug fit with treating the over arching problem of too much GABA receptor action on the ends of the nerves but there is a natural herb that has the same action in the body. It is called Ginkgo Biloba. Roche may have a perfect product but it will be another 10 to 15 years until it is available. This research and other cognitie research is not about ‘fixing’ the patient with Down syndrome. It is about improving outcomes.

“People with Down” – It’s Down syndrome. Don’t use “Down” by itself.
Of course I love my adult son who has Down syndrome the way he is. Taking a pill that would improve his cognition will not alter the amount of love I have for him. But that doesn’t mean I wouldn’t welcome an advancement that would allow him to lead a better life. I won’t always be around to protect him or point out to others how loving and happy he is just as he is now. In fact, he isn’t always loving or happy. He is very aware that his life is limited because he has Ds and for someone to suggest it isn’t is disingenuous and misleading. By allowing him to take a pill that would enable him to have improved cognition I’m not saying he is of less worth if he doesn’t take the pill or that I don’t accept him the way he is now, I’m saying, “I love you and I want you to have whatever will improve the quality of your life, so long as it does no harm,” just as I might if he were blind or deaf and a medication would allow him to see or hear. It won’t change the fact that he has Ds, but it could go a long way to improving his ability to lead a more independent life. Acceptance of the facts doesn’t mean you don’t also accept the possibility that those facts can change for the better.To those parents who say they wouldn’t want their child to change, be careful that you aren’t choosing what’s best for you, as opposed to what is best for your child. Just as we accept that our “typical” children will one day be independent of us and leave home and make decisions we don’t always agree with, it is our responsibility to our children who have Ds to allow them to become as independent of us as possible.

A loving and supporting family, physical, speech and occupational therapies, an inclusive school environment, greater access to jobs and independent living, and pharmaceutical intervention? Just twenty short years ago these were considered near impossible. Today we are moving into a world where they are the norm. I applaud any advancement in helping my two year old with Down syndrome. A pill to help improve his memory is the best news I’ve gotten since he was born. By the time he reaches high school, there will be more for him then ever before. Please continue to support people with Down syndrome any way you can!

Electa Draper is the health writer for The Denver Post and has covered every news beat in a 22-year journalism career at three newspapers. She has a bachelor's degree in biology and a master's in journalism.